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Mutation screening in Börjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patient
  1. Correspondence to:
 A/Prof Jozef Gécz
 Department of Genetic Medicine, Women’s and Children’s Hospital, 72 King William Road, North Adelaide, SA 5006, Australia; jozef.gecz{at}adelaide.edu.au
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Citation

Crawford J, Lower KM, Hennekam RCM, et al
Mutation screening in Börjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patient

Publication history

  • Received March 21, 2005
  • Accepted June 23, 2005
  • Revised June 21, 2005
  • First published July 1, 2005.
Online issue publication 
April 27, 2016

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